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Sleep Care

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Fatal Familial Insomnia

Have you ever experienced a sleepless nights where you’re staring at the ceiling while the minutes on your clock tick away? Finally, your alarm goes off signaling the end to a long miserable night, but the beginning of an even longer exhausting day.  Imagine having a disease in which sleep in utterly unachievable and the medical world is powerless to provide any relief. Believe it or not, since 2006 there are approximately 100 people in 40 different families around the world having such an experience. These individuals are faced with a very rare disease known as Fatal Familial Insomnia.

Fatal Familial Insomnia (FFI) quite simply involves the sudden onset of a complete and devastating inability to sleep. As its name suggests FFI is passed down through families. The disease was officially discovered in the 1990s, although its lineage can be traced back to the 1700s and a single Venetian family, its members often placed in insane asylums due to the bizarre and inexplicable symptoms associated with FFI. A detail worth emphasizing is that unlike many cases of insomnia in which the sufferer is eventually able to sleep, even if only for a short duration, FFI sufferers are physically unable to achieve any sleep.

FFI is an inherited prion disease of the brain, which predominantly affects the ability for the thalamus in the brain to work correctly.  The thalamus is basically the communication hub directing signals from the brain to the body and vice versa.  It controls functions like core body temperature, blood pressure, heart rate, hormones, and ultimately sleep. In the case of FFI prions are created by a protein mutation in the brain. These proteins lead to deterioration of the cells within the thalamus resulting in the thalamus no longer being able to control signals from the brain to the body.

Even though FFI is typically inherited, the disease doesn’t present itself right away. Those who have the disease won’t experience symptoms until the ages of 35 and 60, with the average age of 50. Due to its late onset, many carriers have already had children before they know that they have the gene. Most people only have a 1 in 33 million chance of having FFI, but the children of FFI carriers have a 50% chance.

FFI exhibits four stages each lasting for only a matter of months. Following the onset of the disease, death will usually occur between 7-36 months.

Stage 1: Abrupt onset of insomnia linked with unusual phobias and panic attacks, as well as muscle twitching and stiffness; stage duration averages 4 months.
Stage 2: Sleep deprivation, hallucinations, and more frequent panic attacks; stage duration averages 5 months.
Stage 3: Complete insomnia and decreased motor functions, causing rapid weight loss; stage duration averages 3 months.
Stage 4: Dementia and loss of motor functions, communication and often becoming mute; stage duration averages 6 months.

Medical professionals believe that the patient is completely aware of their surroundings and understands what is going on around them.  However, they remain imprisoned by the insomnia, unable to communicate while enduring the pain associated with months of sleeplessness. The patient eventually falls into a coma and eventually results in death.

What’s being done to prevent such a disease from occurring?  In an effort to correct the complete insomnia, doctors tried to help FFI patients by giving them sleeping pills. Regrettably, the medicine accelerated the disease, resulting in quicker loss of life. Gene therapy is currently being researched as a possible solution to the disease, although efforts have not yet been successful.  Researchers are attempting to locate the dysfunctional gene and replace it with the normal gene, but this would only be effective if done before the onset of the disease. Efforts are also being made in DNA sequencing in hopes of being able to identify the disease early. Although a cure is not available yet, decedents in families with FFI are remaining hopeful that a cure will be developed in the near future.

To view products and treatments for Insomnia and related issues, click here.

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